Canonical Allele Identifier: CA891843949
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108626330del , CM000685.2:g.108626330del GRCh38
NC_000023.10:g.107869560del , CM000685.1:g.107869560del GRCh37
NC_000023.9:g.107756216del NCBI36
NG_011977.1:g.191407del
NG_011977.2:g.191407del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3227del MANE Select ENSP00000331902.7:p.Pro1076GlnfsTer?
ENST00000361603.7:c.3227del ENSP00000354505.2:p.Pro1076GlnfsTer?
ENST00000328300.10:c.3227del ENSP00000331902.6:p.Pro1076GlnfsTer?
ENST00000361603.6:c.3227del ENSP00000354505.2:p.Pro1076GlnfsTer?
ENST00000483338.1:n.2683del
ENST00000505728.1:c.460del
NM_000495.4:c.3227del NP_000486.1:p.Pro1076GlnfsTer?
NM_033380.2:c.3227del NP_203699.1:p.Pro1076GlnfsTer?
XM_005262070.2:c.3227del XP_005262127.1:p.Pro1076GlnfsTer?
XM_005262072.3:c.3227del XP_005262129.1:p.Pro1076GlnfsTer8
XM_006724616.2:c.3227del XP_006724679.1:p.Pro1076GlnfsTer?
XM_011530849.1:c.2903del XP_011529151.1:p.Pro968GlnfsTer?
XM_011530850.1:c.3227del XP_011529152.1:p.Pro1076GlnfsTer?
XM_011530851.1:c.800del XP_011529153.1:p.Pro267GlnfsTer?
XM_011530849.2:c.3242del XP_011529151.2:p.Pro1081GlnfsTer?
XM_017029259.2:c.3242del XP_016884748.1:p.Pro1081GlnfsTer?
XM_017029260.1:c.3242del XP_016884749.1:p.Pro1081GlnfsTer?
XM_017029261.1:c.3242del XP_016884750.1:p.Pro1081GlnfsTer?
XM_017029262.2:c.3242del XP_016884751.1:p.Pro1081GlnfsTer?
XM_017029263.2:c.1562del XP_016884752.1:p.Pro521GlnfsTer?
NM_000495.5:c.3227del NP_000486.1:p.Pro1076GlnfsTer?
NM_033380.3:c.3227del MANE Select NP_203699.1:p.Pro1076GlnfsTer?